Incidental Mutation 'R7719:Prrc2b'
ID 595091
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 045776-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7719 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 32107280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1614 (C1614*)
Ref Sequence ENSEMBL: ENSMUSP00000064892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]
AlphaFold Q7TPM1
Predicted Effect probably null
Transcript: ENSMUST00000036691
AA Change: C927*
SMART Domains Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: C927*

DomainStartEndE-ValueType
Pfam:BAT2_N 1 194 2.7e-85 PFAM
low complexity region 359 374 N/A INTRINSIC
low complexity region 388 394 N/A INTRINSIC
low complexity region 413 424 N/A INTRINSIC
coiled coil region 494 544 N/A INTRINSIC
low complexity region 600 621 N/A INTRINSIC
low complexity region 638 656 N/A INTRINSIC
low complexity region 885 900 N/A INTRINSIC
low complexity region 992 1007 N/A INTRINSIC
low complexity region 1112 1126 N/A INTRINSIC
low complexity region 1218 1233 N/A INTRINSIC
low complexity region 1257 1275 N/A INTRINSIC
low complexity region 1402 1421 N/A INTRINSIC
low complexity region 1425 1437 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000069817
AA Change: C1614*
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: C1614*

DomainStartEndE-ValueType
Pfam:BAT2_N 1 191 3.1e-65 PFAM
low complexity region 359 374 N/A INTRINSIC
low complexity region 388 394 N/A INTRINSIC
low complexity region 413 424 N/A INTRINSIC
coiled coil region 494 544 N/A INTRINSIC
low complexity region 600 621 N/A INTRINSIC
low complexity region 638 656 N/A INTRINSIC
low complexity region 960 977 N/A INTRINSIC
low complexity region 1004 1018 N/A INTRINSIC
low complexity region 1070 1094 N/A INTRINSIC
low complexity region 1307 1325 N/A INTRINSIC
low complexity region 1388 1401 N/A INTRINSIC
low complexity region 1413 1426 N/A INTRINSIC
low complexity region 1572 1587 N/A INTRINSIC
low complexity region 1678 1693 N/A INTRINSIC
low complexity region 1798 1812 N/A INTRINSIC
low complexity region 1904 1919 N/A INTRINSIC
low complexity region 1943 1961 N/A INTRINSIC
low complexity region 2088 2107 N/A INTRINSIC
low complexity region 2111 2123 N/A INTRINSIC
low complexity region 2161 2174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000128936
AA Change: C94*
SMART Domains Protein: ENSMUSP00000121664
Gene: ENSMUSG00000039262
AA Change: C94*

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
low complexity region 159 174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132459
AA Change: C854*
SMART Domains Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: C854*

DomainStartEndE-ValueType
Pfam:BAT2_N 1 119 9.8e-24 PFAM
low complexity region 287 302 N/A INTRINSIC
low complexity region 316 322 N/A INTRINSIC
low complexity region 341 352 N/A INTRINSIC
coiled coil region 421 471 N/A INTRINSIC
low complexity region 528 549 N/A INTRINSIC
low complexity region 566 584 N/A INTRINSIC
low complexity region 813 828 N/A INTRINSIC
low complexity region 920 935 N/A INTRINSIC
low complexity region 1040 1054 N/A INTRINSIC
low complexity region 1146 1161 N/A INTRINSIC
low complexity region 1185 1203 N/A INTRINSIC
low complexity region 1330 1349 N/A INTRINSIC
low complexity region 1353 1365 N/A INTRINSIC
low complexity region 1403 1416 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000156313
AA Change: C166*
SMART Domains Protein: ENSMUSP00000114994
Gene: ENSMUSG00000039262
AA Change: C166*

DomainStartEndE-ValueType
low complexity region 125 140 N/A INTRINSIC
low complexity region 231 246 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T A 1: 155,562,758 (GRCm39) L253H probably damaging Het
Adam11 T C 11: 102,663,303 (GRCm39) V238A probably benign Het
Amer3 A T 1: 34,628,083 (GRCm39) H774L possibly damaging Het
Anapc15 T C 7: 101,550,236 (GRCm39) L150P unknown Het
Ano8 G T 8: 71,935,784 (GRCm39) T278K possibly damaging Het
Atg16l2 T C 7: 100,939,074 (GRCm39) K618E probably damaging Het
Casz1 C T 4: 149,028,981 (GRCm39) S1142L probably damaging Het
Ccdc30 T A 4: 119,190,813 (GRCm39) E471D probably damaging Het
Cks1b T C 3: 89,323,635 (GRCm39) N45D probably benign Het
Clasrp T C 7: 19,321,769 (GRCm39) T296A probably damaging Het
Cluap1 C T 16: 3,727,467 (GRCm39) probably null Het
Cntn5 T A 9: 9,704,903 (GRCm39) D632V probably damaging Het
Cntnap3 G A 13: 64,920,591 (GRCm39) Q593* probably null Het
Col18a1 A T 10: 76,913,846 (GRCm39) I457K probably benign Het
Crybb3 G T 5: 113,223,834 (GRCm39) Q192K probably damaging Het
Cyb561d2 C T 9: 107,417,383 (GRCm39) A123T probably benign Het
Cyp2b13 C T 7: 25,795,095 (GRCm39) A442V probably damaging Het
Cyp2j9 G A 4: 96,457,079 (GRCm39) T464I probably benign Het
Cyp4a29 G A 4: 115,108,137 (GRCm39) G320R possibly damaging Het
Dbp T C 7: 45,359,174 (GRCm39) I283T probably damaging Het
Efcab3 T C 11: 105,002,674 (GRCm39) I303T probably benign Het
Efcab8 T A 2: 153,629,665 (GRCm39) V166D Het
Efhc1 A T 1: 21,049,744 (GRCm39) I535F probably benign Het
Epb41l3 A G 17: 69,560,409 (GRCm39) I319V possibly damaging Het
Ewsr1 T C 11: 5,035,900 (GRCm39) T193A unknown Het
Fam227a T C 15: 79,504,913 (GRCm39) N510S possibly damaging Het
Frmpd1 T C 4: 45,284,841 (GRCm39) C1221R possibly damaging Het
Gm6741 A C 17: 91,544,472 (GRCm39) E78D probably benign Het
Gpam C T 19: 55,070,102 (GRCm39) V385I probably damaging Het
Gpr55 A G 1: 85,869,059 (GRCm39) V174A probably benign Het
Gsdmc T C 15: 63,650,813 (GRCm39) probably null Het
Hmcn1 T A 1: 150,441,080 (GRCm39) D5509V possibly damaging Het
Hoxc13 A T 15: 102,830,293 (GRCm39) Q224L possibly damaging Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Igsf3 G A 3: 101,342,857 (GRCm39) R478H probably damaging Het
Itgb5 A G 16: 33,740,486 (GRCm39) Q532R probably benign Het
Jph1 T C 1: 17,162,215 (GRCm39) Y149C probably damaging Het
Lztfl1 T C 9: 123,544,395 (GRCm39) D33G probably null Het
Mex3c G T 18: 73,723,061 (GRCm39) A385S possibly damaging Het
Myo5a T A 9: 75,051,366 (GRCm39) S320T probably benign Het
Nsun4 A T 4: 115,909,617 (GRCm39) N314K possibly damaging Het
Omg T A 11: 79,393,059 (GRCm39) E266D probably benign Het
Or4b12 A T 2: 90,096,603 (GRCm39) M57K probably damaging Het
Paqr9 T A 9: 95,442,829 (GRCm39) V273E possibly damaging Het
Phkg1 G A 5: 129,902,699 (GRCm39) probably benign Het
Plekhm3 T C 1: 64,960,901 (GRCm39) K452E probably benign Het
Plpbp T A 8: 27,535,974 (GRCm39) I86N Het
Prl2c1 G T 13: 28,035,780 (GRCm39) A51S probably damaging Het
Prmt8 A T 6: 127,706,466 (GRCm39) H108Q probably damaging Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Rassf9 A G 10: 102,381,461 (GRCm39) D281G probably benign Het
Resf1 T C 6: 149,228,853 (GRCm39) I633T probably benign Het
Rmnd1 T C 10: 4,377,496 (GRCm39) D61G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Ryr2 A G 13: 11,745,229 (GRCm39) S2055P possibly damaging Het
Six5 G A 7: 18,830,803 (GRCm39) A477T probably damaging Het
Speg A G 1: 75,352,469 (GRCm39) E129G probably damaging Het
Stard10 C T 7: 100,995,320 (GRCm39) A78V not run Het
Stard3 T C 11: 98,266,502 (GRCm39) V127A probably benign Het
Svep1 G A 4: 58,068,523 (GRCm39) P3088S probably damaging Het
Tbck A G 3: 132,440,489 (GRCm39) D508G probably damaging Het
Tgm2 T A 2: 157,985,038 (GRCm39) T23S probably damaging Het
Ttll10 G T 4: 156,131,665 (GRCm39) probably null Het
Vcan A T 13: 89,852,738 (GRCm39) S741T probably damaging Het
Vmn2r13 T C 5: 109,319,618 (GRCm39) N454S probably benign Het
Vmn2r45 T A 7: 8,486,460 (GRCm39) E276V probably damaging Het
Wnt8a T C 18: 34,680,588 (GRCm39) W318R probably damaging Het
Zer1 A T 2: 30,001,243 (GRCm39) L87H probably damaging Het
Zfp518a T A 19: 40,901,212 (GRCm39) N380K probably benign Het
Zfp90 T C 8: 107,145,725 (GRCm39) V19A probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Prrc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Prrc2b APN 2 32,098,731 (GRCm39) missense probably damaging 1.00
IGL00846:Prrc2b APN 2 32,089,109 (GRCm39) splice site probably benign
IGL00977:Prrc2b APN 2 32,103,822 (GRCm39) missense probably benign 0.05
IGL01372:Prrc2b APN 2 32,113,942 (GRCm39) missense probably damaging 0.99
IGL01993:Prrc2b APN 2 32,114,057 (GRCm39) missense possibly damaging 0.47
IGL02097:Prrc2b APN 2 32,081,513 (GRCm39) splice site probably benign
IGL02165:Prrc2b APN 2 32,104,652 (GRCm39) missense probably damaging 1.00
IGL02184:Prrc2b APN 2 32,111,467 (GRCm39) missense probably benign 0.19
IGL02238:Prrc2b APN 2 32,103,429 (GRCm39) missense probably damaging 1.00
IGL02338:Prrc2b APN 2 32,104,047 (GRCm39) missense probably benign 0.01
IGL02399:Prrc2b APN 2 32,116,973 (GRCm39) nonsense probably null
IGL02597:Prrc2b APN 2 32,109,625 (GRCm39) missense probably damaging 1.00
IGL02729:Prrc2b APN 2 32,098,770 (GRCm39) missense probably damaging 0.99
IGL02743:Prrc2b APN 2 32,084,441 (GRCm39) missense probably damaging 1.00
IGL02815:Prrc2b APN 2 32,094,265 (GRCm39) missense probably damaging 1.00
IGL03159:Prrc2b APN 2 32,084,498 (GRCm39) missense probably damaging 0.98
BB002:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
BB012:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
FR4304:Prrc2b UTSW 2 32,111,179 (GRCm39) missense probably damaging 1.00
R0082:Prrc2b UTSW 2 32,102,310 (GRCm39) splice site probably benign
R0105:Prrc2b UTSW 2 32,103,323 (GRCm39) nonsense probably null
R0276:Prrc2b UTSW 2 32,109,666 (GRCm39) missense probably damaging 0.97
R0325:Prrc2b UTSW 2 32,089,103 (GRCm39) missense probably damaging 1.00
R0436:Prrc2b UTSW 2 32,120,672 (GRCm39) missense probably damaging 1.00
R0595:Prrc2b UTSW 2 32,073,189 (GRCm39) missense probably damaging 1.00
R0607:Prrc2b UTSW 2 32,103,882 (GRCm39) missense probably damaging 0.99
R0650:Prrc2b UTSW 2 32,119,267 (GRCm39) splice site probably benign
R1282:Prrc2b UTSW 2 32,113,456 (GRCm39) missense probably damaging 0.96
R1421:Prrc2b UTSW 2 32,090,990 (GRCm39) missense possibly damaging 0.65
R1452:Prrc2b UTSW 2 32,084,997 (GRCm39) missense probably damaging 1.00
R1535:Prrc2b UTSW 2 32,094,301 (GRCm39) missense probably benign 0.06
R1709:Prrc2b UTSW 2 32,084,473 (GRCm39) missense probably damaging 1.00
R1710:Prrc2b UTSW 2 32,102,234 (GRCm39) missense probably damaging 0.99
R2094:Prrc2b UTSW 2 32,072,582 (GRCm39) missense probably damaging 1.00
R2202:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2203:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2204:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2428:Prrc2b UTSW 2 32,106,067 (GRCm39) missense probably benign 0.00
R2435:Prrc2b UTSW 2 32,109,741 (GRCm39) missense probably damaging 0.99
R3439:Prrc2b UTSW 2 32,096,359 (GRCm39) missense probably benign 0.01
R4175:Prrc2b UTSW 2 32,108,820 (GRCm39) intron probably benign
R4710:Prrc2b UTSW 2 32,083,869 (GRCm39) missense possibly damaging 0.80
R4728:Prrc2b UTSW 2 32,120,637 (GRCm39) missense probably damaging 1.00
R4791:Prrc2b UTSW 2 32,107,351 (GRCm39) splice site probably null
R4876:Prrc2b UTSW 2 32,104,212 (GRCm39) missense probably benign 0.00
R4908:Prrc2b UTSW 2 32,116,330 (GRCm39) missense possibly damaging 0.94
R4997:Prrc2b UTSW 2 32,112,323 (GRCm39) missense probably damaging 1.00
R5240:Prrc2b UTSW 2 32,096,408 (GRCm39) missense probably benign 0.01
R5276:Prrc2b UTSW 2 32,104,734 (GRCm39) missense probably benign 0.09
R5455:Prrc2b UTSW 2 32,111,355 (GRCm39) critical splice acceptor site probably null
R5821:Prrc2b UTSW 2 32,102,144 (GRCm39) missense probably damaging 0.99
R5835:Prrc2b UTSW 2 32,096,485 (GRCm39) missense probably benign 0.18
R5958:Prrc2b UTSW 2 32,102,092 (GRCm39) missense possibly damaging 0.89
R6052:Prrc2b UTSW 2 32,102,297 (GRCm39) missense possibly damaging 0.92
R6218:Prrc2b UTSW 2 32,098,823 (GRCm39) missense probably damaging 1.00
R6428:Prrc2b UTSW 2 32,116,508 (GRCm39) splice site probably null
R6505:Prrc2b UTSW 2 32,112,332 (GRCm39) missense probably damaging 1.00
R6812:Prrc2b UTSW 2 32,103,153 (GRCm39) missense probably benign 0.30
R6826:Prrc2b UTSW 2 32,112,300 (GRCm39) critical splice acceptor site probably null
R6827:Prrc2b UTSW 2 32,090,963 (GRCm39) missense probably benign 0.37
R7021:Prrc2b UTSW 2 32,111,498 (GRCm39) missense probably damaging 1.00
R7078:Prrc2b UTSW 2 32,103,531 (GRCm39) missense probably benign 0.01
R7081:Prrc2b UTSW 2 32,103,075 (GRCm39) missense probably benign 0.12
R7101:Prrc2b UTSW 2 32,117,005 (GRCm39) missense possibly damaging 0.68
R7215:Prrc2b UTSW 2 32,119,309 (GRCm39) missense probably damaging 1.00
R7228:Prrc2b UTSW 2 32,104,318 (GRCm39) nonsense probably null
R7566:Prrc2b UTSW 2 32,084,402 (GRCm39) missense probably benign 0.02
R7925:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
R7999:Prrc2b UTSW 2 32,084,426 (GRCm39) missense probably damaging 0.96
R8099:Prrc2b UTSW 2 32,098,686 (GRCm39) missense probably benign 0.06
R8154:Prrc2b UTSW 2 32,108,689 (GRCm39) missense probably benign 0.42
R8252:Prrc2b UTSW 2 32,109,392 (GRCm39) missense possibly damaging 0.80
R8379:Prrc2b UTSW 2 32,104,666 (GRCm39) missense probably damaging 0.96
R8485:Prrc2b UTSW 2 32,102,105 (GRCm39) missense possibly damaging 0.83
R8845:Prrc2b UTSW 2 32,106,162 (GRCm39) missense possibly damaging 0.89
R8845:Prrc2b UTSW 2 32,102,105 (GRCm39) missense possibly damaging 0.83
R8919:Prrc2b UTSW 2 32,104,953 (GRCm39) missense probably benign
R8982:Prrc2b UTSW 2 32,102,134 (GRCm39) missense probably damaging 1.00
R9065:Prrc2b UTSW 2 32,109,304 (GRCm39) missense probably damaging 0.99
R9127:Prrc2b UTSW 2 32,103,764 (GRCm39) missense probably damaging 1.00
R9217:Prrc2b UTSW 2 32,103,414 (GRCm39) missense probably damaging 1.00
R9338:Prrc2b UTSW 2 32,098,779 (GRCm39) missense probably damaging 1.00
R9344:Prrc2b UTSW 2 32,103,600 (GRCm39) missense probably benign 0.28
R9386:Prrc2b UTSW 2 32,104,125 (GRCm39) missense probably benign
R9601:Prrc2b UTSW 2 32,090,953 (GRCm39) missense probably damaging 1.00
R9607:Prrc2b UTSW 2 32,098,794 (GRCm39) missense probably damaging 0.99
R9670:Prrc2b UTSW 2 32,103,199 (GRCm39) missense probably benign 0.00
R9706:Prrc2b UTSW 2 32,107,300 (GRCm39) missense probably benign 0.00
Z1088:Prrc2b UTSW 2 32,106,744 (GRCm39) missense probably damaging 1.00
Z1088:Prrc2b UTSW 2 32,104,441 (GRCm39) missense probably benign 0.03
Z1177:Prrc2b UTSW 2 32,116,364 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATCTCAAGCTGGTTTGG -3'
(R):5'- TGACATGGTGCAGAGGTTC -3'

Sequencing Primer
(F):5'- GGGTAGTAATATGACACTTTCCTAGG -3'
(R):5'- AACACTGACTCTGCTTGGG -3'
Posted On 2019-11-12